SHORT syndrome

Preferred Label : SHORT syndrome;

MeSH note : Stature, Hyperextensibility of joints or Hernia (inguinal), Ocular depression, Rieger anomaly and Teething delay; Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay;

MeSH synonym : lipodystrophy, partial, with rieger anomaly, and short stature;

Details

Origin ID

C537327;

UMLS CUI

C0878684;

Automatic exact mappings (from CISMeF team)
- SHORT syndrome [ICD-11 More detail]
- SHORT syndrome [DO Concept]
Currated CISMeF NLP mapping
- SHORT syndrome [ORDO Disease]
- Short syndrome [OMIM Phenotype]
DO Cross reference
- SHORT syndrome [DO Concept]
Has phenotype(s) (HPO)
- Speech delay [HPO term]
MeSH term(s) associated for indexing
- growth disorders [MeSH Descriptor]
- hypercalcemia [MeSH Descriptor]
- metabolic diseases [MeSH Descriptor]
- nephrocalcinosis [MeSH Descriptor]
ORDO relation(s)
- SHORT syndrome [ORDO Disease]
Record concept(s)
- SHORT syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SHORT syndrome [ORDO Disease]
- SHORT syndrome [DO Concept]
- SHORT syndrome [MedDRA Preferred Term]
- Short syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

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